Phenotype #0000228547

Individual ID 00301354
Associated disease OPDM
Diagnosis/Initial oculopharyngodistal myopathy
Diagnosis/Definite OPDM2
Phenotype details see paper; ..., disease duration 7y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 790 IU/L; rimmed vacuoles (HP:0003805)
Inheritance Unknown
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset 22y
Phenotype/Onset weakness in climbing up stairs
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-05-15 09:40:23 +02:00 (CEST)
Date last edited 2020-09-14 08:53:25 +02:00 (CEST)

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